GRCh38 · COSMIC v96


This section shows a summary for the selected study (COSU identifier) or publication (COSP identifier). Studies may have been performed by the Sanger Institute Cancer Genome Project, or imported from the ICGC/TCGA. You can see more information on the help pages.

Histiocytic Sarcoma Following B-Lymphoblastic Leukemia/Lymphoma.
Paper ID
Geyer JT, Yigit N, Miyaguchi A, Cheng S, Casano J, Mathew S, Desai P, Gergis U and Tam W
Departments of Pathology and Laboratory Medicine/NewYork-Presbyterian Hospital, New York, NY.
American journal of clinical pathology, 2019
ISSN: 1943-7722
PMID: 31172191 (view at PubMed or Europe PMC)
Objectives: Rare cases of clonally related histiocytic sarcoma (HS) following B-lymphoblastic leukemia/lymphoma (B-ALL/LBL) have been reported to date.Methods: We present a patient with HS, which appeared as a breast mass 12 months after the initial diagnosis of B-ALL.Results: Both HS and the B-ALL shared IGH-MYC and IGK gene rearrangements. Next-generation sequencing and whole-exome sequencing (WES) studies detected 35 common mutations, as well as mutations unique to B-ALL (16) and HS (15), including BRAF D594G. The patient achieved complete remission of B-ALL, but HS failed to respond to many cycles of intensive chemotherapy regimens. A partial response was achieved with sorafenib, a BRAF-targeted therapy.Conclusions: To our knowledge, this is the first study to demonstrate by WES that clonally related B-ALL and HS arise through divergent evolution from a common precursor. We present our findings together with a discussion of the previously reported cases of HS in patients with B-ALL.
Paper Status